Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A840V
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CASR

NM_000388.4:p.A840V

Associated Papers

A novel chemoreactive calcilytic for the potential treatment of autosomal dominant hypocalcemia.

Dangerfield J et al.

Acta Pharmaceutica Sinica. B, 2025

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

40664210 (PubMed )
Supplement: mmc1.pdf

Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

De Coster T et al.

Journal of Endocrinological Investigation, 2025

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.

Bircan A et al.

Plos Computational Biology, 2024

Subcutaneous Infusion of rhPTH1-34 During Pregnancy and Nursing in a Woman With Autosomal Dominant Hypoparathyroidism 1.

Shulman D

Journal of the Endocrine Society, 2022

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.

Hannan FM et al.

Jbmr Plus, 2020

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

Roberts MS et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.

Ovejero D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Osmomediated natriuresis in humans: the role of vasopressin and tubular calcium sensing.

Hoorn EJ et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."